Associated Papers
Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia.
Pereira RC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.
Höppner J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
Obiezu F et al.
Jbmr Plus, 2025
Key Interaction Changes Determine the Activation Process of Human Parathyroid Hormone Type 1 Receptor.
Zhang Y et al.
Journal of the American Chemical Society, 2025
Human diseases caused by homozygous PTH1R mutations.
Portales-Castillo I et al.
Frontiers in Endocrinology, 2025
Ocular findings in Jansen metaphyseal chondrodysplasia.
Obiezu F et al.
Jbmr Plus, 2024
Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" PTH1R Mice with the H223R Mutation of Jansen's Disease.
Reyes M et al.
Jbmr Plus, 2023
Altered Signaling and Desensitization Responses in PTH1R Mutants Associated with Eiken Syndrome.
Portales-Castillo I et al.
Communications Biology, 2023
Primary failure of tooth eruption: Etiology and management.
Yamaguchi T et al.
The Japanese Dental Science Review, 2022
Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.
Portales-Castillo I et al.
Jbmr Plus, 2022
Genetic causes of neonatal and infantile hypercalcaemia.
Gorvin CM
Pediatric Nephrology (berlin, Germany), 2022
PTH/PTHrP Receptor Signaling Restricts Arterial Fibrosis in Diabetic LDLR-/- Mice by Inhibiting Myocardin-Related Transcription Factor Relays.
Behrmann A et al.
Circulation Research, 2020
Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?
Gabbett MT et al.
American Journal of Medical Genetics. Part A, 2020
An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal Chondrodysplasia.
Noda H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Salt-inducible kinases dictate parathyroid hormone 1 receptor action in bone development and remodeling.
Nishimori S et al.
The Journal of Clinical Investigation, 2019
Structure and dynamics of the active human parathyroid hormone receptor-1.
Zhao LH et al.
Science (new York, N.y.), 2019
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.
Saito H et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Rearrangement of a polar core provides a conserved mechanism for constitutive activation of class B G protein-coupled receptors.
Yin Y et al.
The Journal of Biological Chemistry, 2017
Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia.
Shimomura-Kuroki J et al.
Odontology, 2017
Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report.
Khan R et al.
Pediatric Neurosurgery, 2017
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.
Nampoothiri S et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Jelani M et al.
Archives of Oral Biology, 2016
Ihh and PTH1R signaling in limb mesenchyme is required for proper segmentation and subsequent formation and growth of digit bones.
Amano K et al.
Bone, 2016
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Savoldi G et al.
American Journal of Medical Genetics. Part A, 2013
A new form or a variant of SMD type A4.
Marik I et al.
Journal of Applied Genetics, 2012
Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia.
Onuchic L et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Deletion of Zfp521 rescues the growth plate phenotype in a mouse model of Jansen metaphyseal chondrodysplasia.
Seriwatanachai D et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
TGF-beta type II receptor phosphorylates PTH receptor to integrate bone remodelling signalling.
Qiu T et al.
Nature Cell Biology, 2010
Severe neonatal spondylometaphyseal dysplasia in two siblings.
Czarny-Ratajczak M et al.
American Journal of Medical Genetics. Part A, 2009
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
Couvineau A et al.
Human Molecular Genetics, 2008
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.
Hoogendam J et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Proline-rich motifs in the parathyroid hormone (PTH)/PTH-related protein receptor C terminus mediate scaffolding of c-Src with beta-arrestin2 for ERK1/2 activation.
Rey A et al.
The Journal of Biological Chemistry, 2006
[Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways].
Bonaventure J et al.
Medecine Sciences : M/s, 2005
A mutant PTH/PTHrP type I receptor in enchondromatosis.
Hopyan S et al.
Nature Genetics, 2002
Partial rescue of PTH/PTHrP receptor knockout mice by targeted expression of the Jansen transgene.
Soegiarto DW et al.
Endocrinology, 2001
Identification of determinants of inverse agonism in a constitutively active parathyroid hormone/parathyroid hormone-related peptide receptor by photoaffinity cross-linking and mutational analysis.
Gensure RC et al.
The Journal of Biological Chemistry, 2001
Characterization of the molecular motions of constitutively active G protein-coupled receptors for parathyroid hormone.
Rölz C et al.
Biophysical Chemistry, 2001
Cellular distribution of constitutively active mutant parathyroid hormone (PTH)/PTH-related protein receptors and regulation of cyclic adenosine 3',5'-monophosphate signaling by beta-arrestin2.
Ferrari SL et al.
Molecular Endocrinology (baltimore, Md.), 2001